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    Cfhr1 complement factor H-related 1 [ Mus musculus (house mouse) ]

    Gene ID: 50702, updated on 9-Dec-2024

    Summary

    Official Symbol
    Cfhr1provided by MGI
    Official Full Name
    complement factor H-related 1provided by MGI
    Primary source
    MGI:MGI:2138169
    See related
    Ensembl:ENSMUSG00000057037 AllianceGenome:MGI:2138169
    Gene type
    protein coding
    RefSeq status
    VALIDATED
    Organism
    Mus musculus
    Lineage
    Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Glires; Rodentia; Myomorpha; Muroidea; Muridae; Murinae; Mus; Mus
    Also known as
    CFHRB; Cfhl1
    Summary
    Predicted to enable complement component C3b binding activity and identical protein binding activity. Predicted to be involved in complement activation. Predicted to be part of protein-containing complex. Predicted to be active in extracellular space. Human ortholog(s) of this gene implicated in acute myeloid leukemia; age related macular degeneration 1; atypical hemolytic-uremic syndrome; and multiple myeloma. Orthologous to several human genes including CFHR1 (complement factor H related 1). [provided by Alliance of Genome Resources, Dec 2024]
    Expression
    Biased expression in liver adult (RPKM 16.4), liver E18 (RPKM 5.2) and 2 other tissues See more
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    Genomic context

    See Cfhr1 in Genome Data Viewer
    Location:
    1 F; 1 61.62 cM
    Exon count:
    6
    Annotation release Status Assembly Chr Location
    RS_2024_02 current GRCm39 (GCF_000001635.27) 1 NC_000067.7 (139474802..139487960, complement)
    108.20200622 previous assembly GRCm38.p6 (GCF_000001635.26) 1 NC_000067.6 (139547064..139560222, complement)

    Chromosome 1 - NC_000067.7Genomic Context describing neighboring genes Neighboring gene STARR-seq mESC enhancer starr_02479 Neighboring gene abnormal spindle microtubule assembly Neighboring gene STARR-seq mESC enhancer starr_02480 Neighboring gene STARR-seq mESC enhancer starr_02481 Neighboring gene coagulation factor XIII, beta subunit Neighboring gene complement factor H-related 3 Neighboring gene STARR-seq mESC enhancer starr_02482 Neighboring gene STARR-seq mESC enhancer starr_02483 Neighboring gene STARR-seq mESC enhancer starr_02484 Neighboring gene predicted gene, 26271

    Genomic regions, transcripts, and products

    Bibliography

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?

    Variation

    Alleles

    Alleles of this type are documented at Mouse Genome Informatics  (MGI)
    • Endonuclease-mediated (3) 

    General gene information

    Markers

    Clone Names

    • MGC130590

    Gene Ontology Provided by MGI

    Function Evidence Code Pubs
    enables complement component C3b binding IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    enables identical protein binding ISO
    Inferred from Sequence Orthology
    more info
     
    Process Evidence Code Pubs
    involved_in complement activation IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    Component Evidence Code Pubs
    is_active_in extracellular space IBA
    Inferred from Biological aspect of Ancestor
    more info
     
    part_of protein-containing complex ISO
    Inferred from Sequence Orthology
    more info
     

    General protein information

    Preferred Names
    complement factor H-related 1
    Names
    complement component factor h-like 1
    complement factor H-related protein

    NCBI Reference Sequences (RefSeq)

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    RefSeqs maintained independently of Annotated Genomes

    These reference sequences exist independently of genome builds. Explain

    These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

    mRNA and Protein(s)

    1. NM_015780.2NP_056595.1  complement factor H-related 1 precursor

      See identical proteins and their annotated locations for NP_056595.1

      Status: VALIDATED

      Source sequence(s)
      AI451168, BC111870, M29008
      Consensus CDS
      CCDS15337.1
      UniProtKB/TrEMBL
      Q61406
      Related
      ENSMUSP00000023965.6, ENSMUST00000023965.8
      Conserved Domains (1) summary
      cd00033
      Location:154209
      CCP; Complement control protein (CCP) modules (aka short consensus repeats SCRs or SUSHI repeats) have been identified in several proteins of the complement system

    RefSeqs of Annotated Genomes: GCF_000001635.27-RS_2024_02

    The following sections contain reference sequences that belong to a specific genome build. Explain

    Reference GRCm39 C57BL/6J

    Genomic

    1. NC_000067.7 Reference GRCm39 C57BL/6J

      Range
      139474802..139487960 complement
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)